المؤلفون: Sari Alon, Gustavo Maegawa, Simeon Boyd, Mohamed G. Atta, Myrl Holida, Robert B. Colvin, Ozlem Goker-Alpan, Kathy Nicholls, Ahmad Tuffaha, Derlis Gonzales, Derralynn Hughes, J. Charles Jennette, Pilar Giraldo, Mali Szlaifer, Raul Chertkoff, Einat Brill-Almon, Raphael Schiffmann, Laura Barisoni

المصدر: Molecular Genetics and Metabolism. 129:S76-S77

مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, Chemistry, Endocrinology, Diabetes and Metabolism, Lyso gb3, medicine.disease, Biochemistry, Fabry disease, Endocrinology, α galactosidase a, Enzyme, Internal medicine, Genetics, medicine, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51f1531a46901b74095174e7ff084991
https://doi.org/10.1016/j.ymgme.2019.11.185

المؤلفون: Michael Buckley, William Lo, Michael Gattas, Michael T. Gabbett, Mathew Wallis, David J. Amor, Fiona Haslam McKenzie, Felicity Collins, Nerine Gregersen, Kate Gibson, Simeon Boyd, Mary Louise Freckmann, Carol Ann Verrenkamp, Mark P. Gianoutsos, Eric Lee, Wanda Lattanzi, Ying Zhu, David Mowat, Tony Roscioli, Ravi Savarirayan, Zornitza Stark, Eric Haan, Tiong Yang Tan, Janine Smith, Maya Chopra, Ian Hayes, Trang T. Le, Sulekha Rajagopalan, Timothy C. Cox, George Elakis, Edwin P. Kirk, Anne M. Turner, Natasha J Brown, Nicole Snow, Hanka Venselaar, Alison Yeung, Rani Sachdev, Christopher P. Barnett, Lesley C. Adès

المصدر: Genetics in Medicine, 20, 1061-1068
Genetics in Medicine, 20, 9, pp. 1061-1068

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Fibroblast Growth Factor, Cohort Studies, Basic Helix-Loop-Helix Transcription Factors, coronal, Settore BIO/13 - BIOLOGIA APPLICATA, Prospective Studies, panel, Exome, Genetics (clinical), Coronal craniosynostosis, Massive parallel sequencing, medicine.diagnostic_test, craniosynostosis, EFNB1, TCF12, Australia, Cranial Sutures, Craniosynostoses, DNA-Binding Proteins, Ephrin-B1, Female, Fibroblast Growth Factor 10, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, New Zealand, Nuclear Proteins, Receptor, Fibroblast Growth Factor, Type 1, Repressor Proteins, Retrospective Studies, Transcription Factors, Twist-Related Protein 1, Receptor, Type 1, Cohort study, medicine.medical_specialty, Craniosynostosis, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Genetic testing, business.industry, Retrospective cohort study, medicine.disease, 030104 developmental biology, business, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23f0bdad99d57fab58d5ddfe3acfa75d
http://hdl.handle.net/2066/198303

المؤلفون: Mohamed G. Atta, Myrl Holida, Simeon Boyd, Raul Chertkoff, Gustavo Maegawa, Kathy Nicholls, Ozlem Goker-Alpan, Martha R. Charney, David G. Warnock, Derlis E. Gonzalez, Raphael Schiffmann, Derralynn Hughes, Einat Brill-Almon, Ahmad Tuffaha, Pilar Giraldo, Sari Alon

المصدر: Molecular Genetics and Metabolism. 120:S137-S138

مصطلحات موضوعية: 0301 basic medicine, business.industry, Endocrinology, Diabetes and Metabolism, Immunogenicity, 030105 genetics & heredity, medicine.disease, Biochemistry, Fabry disease, Virology, 03 medical and health sciences, Endocrinology, Phase (matter), Genetics, medicine, business, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::76dc054cd54cce75253ba68ea87e0502
https://doi.org/10.1016/j.ymgme.2016.11.364

المؤلفون: Raul Chertkoff, Mohamed G. Atta, Myrl Holida, Robert B. Colvin, Kathy Nicholls, Laura Barisoni, Jenny Krupko, Simeon Boyd, Ozlem Goker-Alpan, Einat Brill-Almon, Mali Szlaifer, Gustavo Maegawa, J. Charles Jannette, Ahmad Tuffaha, Pilar Giraldo, Derralynn Hughes, Raphael Schiffmann, Derlis E. Gonzalez

المصدر: Molecular Genetics and Metabolism. 120:S68

مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, One year follow up, business.industry, Endocrinology, Diabetes and Metabolism, Alpha (ethology), Pharmacology, medicine.disease, Biochemistry, Fabry disease, Gastroenterology, Endocrinology, Enzyme, chemistry, Internal medicine, Genetics, Medicine, business, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7038fb041934cad098277faf14c034c5
https://doi.org/10.1016/j.ymgme.2016.11.158

المؤلفون: Raphael Schiffmann, Jeannie Visootsak, Ahmad Tuffaha, Pilar Giraldo, Sari Alon, J. Charles Jannette, Einat Brill-Almon, Myrl Holida, Raul Chertkoff, Mohamed G. Atta, Mali Szlaifer, Laura Barisoni, Robert B. Colvin, Derlis E. Gonzalez, Simeon Boyd, Gustavo Megawa, Derralynn Hughes, Kathy Nicholls, Jenny Krupko, Ozlem Goker-Alpan

المصدر: Molecular Genetics and Metabolism. 117:S59

مصطلحات موضوعية: 0301 basic medicine, chemistry.chemical_classification, business.industry, Endocrinology, Diabetes and Metabolism, Alpha (ethology), 030105 genetics & heredity, Pharmacology, medicine.disease, Biochemistry, Fabry disease, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Enzyme, chemistry, Genetics, Medicine, business, Molecular Biology, Interim report, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b6ad655d60eeb059aa361027ff9e2856
https://doi.org/10.1016/j.ymgme.2015.12.296

المؤلفون: Anthony G. Quinn, Sandra Rojas-Caro, Chris Twelves, Reena Sharma, Stephen Eckert, Chris Bourdon, Bruce Kessler, Chester B. Whitley, Vassili Valayannopoulos, Simeon Boyd, Věra Malinová

المصدر: Molecular Genetics and Metabolism. 114:S99

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Lysosomal acid lipase deficiency, medicine.disease, Biochemistry, Endocrinology, Sebelipase alfa, Internal medicine, Genetics, medicine, business, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::de9ba84c85e7bcaa51f6e7963636fada
https://doi.org/10.1016/j.ymgme.2014.12.221

المؤلفون: Justin T. Wahlstrom, Christopher C. Dvorak, Morton J. Cowan, Mara Bailey-Olson, Simeon Boyd, Biljana Horn, Liga Bivina

المصدر: Molecular Genetics and Metabolism. 111:S27

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Umbilical Cord Blood Transplantation, Idursulfase, business.industry, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Hunter syndrome, Hematopoietic stem cell transplantation, Enzyme replacement therapy, medicine.disease, Biochemistry, Endocrinology, Genetics, medicine, Mucopolysaccharidosis type II, Hurler syndrome, business, Molecular Biology, Progressive disease, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4b572c1dbf11ad6acc2ec2cafb6e1977
https://doi.org/10.1016/j.ymgme.2013.12.044

المؤلفون: Bruce Kessler, Patrick Deegan, Jennifer Burg, Reena Sharma, Eveline O. Stock, Věra Malinová, Manisha Balwani, Radhika Tripuraneni, John P. Kane, Vassili Valayannopoulos, Catherine Breen, Tomas Honzik, Simeon Boyd, Chris Bourdon, Greg Enns, Chet R. Whitley, Eugene Schneider, Anthony G. Quinn

المصدر: Journal of Clinical Lipidology. 7:286

مصطلحات موضوعية: Nutrition and Dietetics, Cholesteryl ester storage disease, business.industry, Endocrinology, Diabetes and Metabolism, Internal Medicine, medicine, In patient, Cardiology and Cardiovascular Medicine, medicine.disease, business, Humanities, Dyslipidemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d8a925b8e46a993e8cbe03848ed66de6
https://doi.org/10.1016/j.jacl.2013.03.094